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Volumn 131, Issue 10, 2013, Pages 1265-1266

Genetic testing for inherited eye disease who benefits?

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; MITOCHONDRIAL DNA; MYOCILIN; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX2;

EID: 84885931362     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.4509     Document Type: Note
Times cited : (23)

References (7)
  • 1
    • 84868212100 scopus 로고    scopus 로고
    • Recommendations for genetic testing of inherited eye diseases: Report of the American Academy of Ophthalmology Task Force on genetic testing
    • Stone EM, Aldave AJ, Drack AV, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology Task Force on genetic testing. Ophthalmology. 2012;119(11):2408-2410.
    • (2012) Ophthalmology. , vol.119 , Issue.11 , pp. 2408-2410
    • Stone, E.M.1    Aldave, A.J.2    Drack, A.V.3
  • 3
    • 84855611189 scopus 로고    scopus 로고
    • Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: Safety and efficacy in 15 children and adults followed up to 3 years
    • Jacobson SG, Cideciyan AV, Ratnakaram R, et al. Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol. 2012;130(1):9-24.
    • (2012) Arch Ophthalmol. , vol.130 , Issue.1 , pp. 9-24
    • Jacobson, S.G.1    Cideciyan, A.V.2    Ratnakaram, R.3
  • 4
    • 77956370875 scopus 로고    scopus 로고
    • Glaucoma: Genes, phenotypes, and
    • new directions for therapy
    • Fan BJ, Wiggs JL. Glaucoma: genes, phenotypes, and new directions for therapy. J Clin Invest. 2010;120(9):3064-3072.
    • (2010) J Clin Invest. , vol.120 , Issue.9 , pp. 3064-3072
    • Fan, B.J.1    Wiggs, J.L.2
  • 5
    • 84860574268 scopus 로고    scopus 로고
    • Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma
    • Zode GS, Bugge KE, Mohan K, et al. Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2012;53(3):1557-1565.
    • (2012) Invest Ophthalmol Vis Sci. , vol.53 , Issue.3 , pp. 1557-1565
    • Zode, G.S.1    Bugge, K.E.2    Mohan, K.3
  • 6
    • 79551638162 scopus 로고    scopus 로고
    • Mitochondrial optic neuropathies: Disease mechanisms and therapeutic strategies
    • Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies: disease mechanisms and therapeutic strategies. Prog Retin Eye Res. 2011;30(2):81-114.
    • (2011) Prog Retin Eye Res. , vol.30 , Issue.2 , pp. 81-114
    • Yu-Wai-Man, P.1    Griffiths, P.G.2    Chinnery, P.F.3
  • 7
    • 84865170123 scopus 로고    scopus 로고
    • Next-generation genetic testing for retinitis pigmentosa
    • Neveling K, Collin RW, Gilissen C, et al. Next-generation genetic testing for retinitis pigmentosa. Hum Mutat. 2012;33(6):963-972.
    • (2012) Hum Mutat. , vol.33 , Issue.6 , pp. 963-972
    • Neveling, K.1    Collin, R.W.2    Gilissen, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.